BC002944
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
16,919 Da
NCBI Official Full Name
Homo sapiens B9 protein domain 1, mRNA
NCBI Official Synonym Full Names
B9 domain containing 1
NCBI Protein Information
B9 domain-containing protein 1
UniProt Protein Name
B9 domain-containing protein 1
UniProt Synonym Protein Names
MKS1-related protein 1
UniProt Synonym Gene Names
UniProt Entry Name
B9D1_HUMAN
NCBI Summary for B9D1
This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]
UniProt Comments for B9D1
B9D1: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling. Defects in B9D1 are the cause of Meckel syndrome type 9 (MKS9). A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Belongs to the B9D family. 2 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 17p11.2
Cellular Component: centrosome; cytosol
Molecular Function: hedgehog receptor activity
Biological Process: cilium biogenesis; smoothened signaling pathway
Disease: Meckel Syndrome, Type 9
Research Articles on B9D1
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Diseases associated with B9D1 cdna clone
Organs/Tissues associated with B9D1 cdna clone
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